A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116512



Internal ID21299778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68290905..68293603hg38UCSC Ensembl
Innerchr17:66287046..66289744hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382699
hg192699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14097675
Samplessample224
Known GenesARSG, SLC16A6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116512
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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